An Age-Based Framework for Evaluating Genome-Scale Sequencing Results in Newborn Screening.

ABSTRACT:

Objective

To assess the performance of a standardized, age-based metric for scoring clinical actionability to evaluate conditions for inclusion in newborn screening and compare it with the results from other contemporary methods.

Study design

The North Carolina Newborn Exome Sequencing for Universal Screening study developed an age-based, semiquantitative metric to assess the clinical actionability of gene-disease pairs and classify them with respect to age of onset or timing of interventions. This categorization was compared with the gold standard Recommended Uniform Screening Panel and other methods to evaluate gene-disease pairs for newborn genomic sequencing.

Results

We assessed 822 gene-disease pairs, enriched for pediatric onset of disease and suspected actionab

SUBMITTER: Milko LV 

PROVIDER: S-EPMC6535354 | biostudies-literature | 2019 Jun

REPOSITORIES: biostudies-literature